Mutagenetix > Incidental Mutation

Incidental Mutation 'R9778:Got1'

733877

Institutional Source

Beutler Lab

Gene Symbol

Got1

Ensembl Gene

ENSMUSG00000025190

Gene Name

glutamic-oxaloacetic transaminase 1, soluble

Synonyms

cytosolic aspartate aminotransferase, Got-1, cAspAT

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9778 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43488191-43513044 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43504284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 46 (S46P)

Ref Sequence

ENSEMBL: ENSMUSP00000026196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026196]

AlphaFold

P05201

Predicted Effect

probably benign
Transcript: ENSMUST00000026196
AA Change: S46P

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000026196
Gene: ENSMUSG00000025190
AA Change: S46P

Domain	Start	End	E-Value	Type
Pfam:Aminotran_1_2	31	405	1.4e-94	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000117986
Gene: ENSMUSG00000025190
AA Change: S7P

Domain	Start	End	E-Value	Type
Pfam:Aminotran_1_2	1	181	7.2e-39	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	T	8: 125,366,098 (GRCm39)	I215N	probably damaging	Het
Aig1	T	C	10: 13,528,757 (GRCm39)		probably null	Het
Atp8b2	T	A	3: 89,861,865 (GRCm39)	K82N	possibly damaging	Het
Cacnb4	T	G	2: 52,359,615 (GRCm39)	Y131S	probably damaging	Het
Cep170b	G	A	12: 112,697,864 (GRCm39)	S62N	possibly damaging	Het
Crmp1	A	G	5: 37,422,619 (GRCm39)	D142G	probably benign	Het
Csf1r	A	G	18: 61,260,957 (GRCm39)	Q716R	possibly damaging	Het
Cyp2u1	T	C	3: 131,087,133 (GRCm39)	T483A	possibly damaging	Het
D930020B18Rik	T	C	10: 121,503,565 (GRCm39)	F247L	probably benign	Het
Dcaf13	T	C	15: 39,008,586 (GRCm39)	L396P	probably damaging	Het
Dnhd1	A	G	7: 105,353,240 (GRCm39)	M2798V	probably benign	Het
E030018B13Rik	A	T	7: 63,569,125 (GRCm39)	T58S	unknown	Het
Eipr1	T	C	12: 28,897,657 (GRCm39)		probably null	Het
Elf1	C	T	14: 79,817,948 (GRCm39)	T526M	possibly damaging	Het
Gm8369	GTGTGTGTGTGTGTGTGTGTG	GTGTGTGTGTGTGTGTGTGTGTG	19: 11,489,128 (GRCm39)		probably null	Het
Inpp4b	T	C	8: 82,775,160 (GRCm39)	I786T	probably benign	Het
Kdm1a	T	C	4: 136,279,892 (GRCm39)	I703M	probably damaging	Het
Krt222	A	T	11: 99,125,838 (GRCm39)	S264R	probably benign	Het
Lrrd1	A	C	5: 3,899,982 (GRCm39)	S96R	possibly damaging	Het
Ltb	C	A	17: 35,414,906 (GRCm39)	Y235*	probably null	Het
Mbd2	T	A	18: 70,751,050 (GRCm39)	C362S	probably damaging	Het
Mlycd	T	A	8: 120,129,325 (GRCm39)	I264N	probably damaging	Het
Mri1	C	T	8: 84,980,933 (GRCm39)	C199Y	possibly damaging	Het
Muc5ac	A	T	7: 141,349,021 (GRCm39)	K487*	probably null	Het
Myh13	T	C	11: 67,249,016 (GRCm39)	I1274T	probably damaging	Het
Ncdn	G	A	4: 126,642,467 (GRCm39)	R397W	probably damaging	Het
Ncf1	T	A	5: 134,258,444 (GRCm39)		probably benign	Het
Nipbl	C	A	15: 8,321,032 (GRCm39)	A2692S	probably benign	Het
Odf2l	C	T	3: 144,854,789 (GRCm39)	T542I	possibly damaging	Het
Or10a49	A	G	7: 108,467,698 (GRCm39)	I221T	probably damaging	Het
Or10al2	T	A	17: 37,983,145 (GRCm39)	I77N	probably damaging	Het
Oxsm	T	C	14: 16,242,629 (GRCm38)	T47A	possibly damaging	Het
Pcdhga3	A	T	18: 37,807,786 (GRCm39)	S80C	probably benign	Het
Pcnx2	T	C	8: 126,512,176 (GRCm39)	T1377A	probably benign	Het
Phactr3	C	A	2: 177,924,805 (GRCm39)	Q252K	possibly damaging	Het
Phf2	T	C	13: 48,973,101 (GRCm39)	H385R	unknown	Het
Pkd1l3	A	T	8: 110,357,937 (GRCm39)	T820S	probably benign	Het
Plekhg1	T	A	10: 3,887,966 (GRCm39)	H353Q		Het
Prss37	T	A	6: 40,494,713 (GRCm39)	E24V	probably damaging	Het
Reln	A	G	5: 22,155,943 (GRCm39)	F2183S	probably damaging	Het
Slc20a2	A	G	8: 23,051,407 (GRCm39)	D480G	probably damaging	Het
Slc8a2	C	T	7: 15,887,124 (GRCm39)	T672M	probably damaging	Het
Slf2	A	G	19: 44,961,666 (GRCm39)	T1062A	probably benign	Het
Snx29	A	G	16: 11,223,609 (GRCm39)	E18G	possibly damaging	Het
Spata31e1	C	T	13: 49,939,542 (GRCm39)	V723M	possibly damaging	Het
Srf	C	A	17: 46,860,079 (GRCm39)	G482V	possibly damaging	Het
Styk1	G	A	6: 131,287,992 (GRCm39)	Q124*	probably null	Het
Tcf7l1	G	T	6: 72,608,226 (GRCm39)	A385E	probably damaging	Het
Thbs4	A	G	13: 92,913,495 (GRCm39)	S142P	probably benign	Het
Tlr1	G	A	5: 65,083,371 (GRCm39)	S402F	probably damaging	Het
Tnrc6a	A	G	7: 122,769,635 (GRCm39)	H475R	probably benign	Het
Trmt10b	A	T	4: 45,314,374 (GRCm39)	N272I	probably damaging	Het
Ubxn7	A	T	16: 32,200,471 (GRCm39)	N409I	probably benign	Het
Vcan	T	C	13: 89,837,930 (GRCm39)	E2538G	probably damaging	Het
Vmn1r65	C	T	7: 6,011,387 (GRCm39)	W282*	probably null	Het
Vmn2r4	A	G	3: 64,322,497 (GRCm39)	I74T	probably benign	Het
Wdr97	T	A	15: 76,241,125 (GRCm39)	F574I		Het
Zfp949	T	C	9: 88,449,340 (GRCm39)		probably null	Het

Other mutations in Got1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:Got1	APN	19	43,493,048 (GRCm39)	missense	possibly damaging	0.72
IGL01404:Got1	APN	19	43,493,048 (GRCm39)	missense	possibly damaging	0.72
IGL01431:Got1	APN	19	43,491,488 (GRCm39)	nonsense	probably null
IGL01476:Got1	APN	19	43,512,848 (GRCm39)	missense	probably damaging	1.00
IGL01688:Got1	APN	19	43,512,775 (GRCm39)	critical splice donor site	probably null
IGL01977:Got1	APN	19	43,504,284 (GRCm39)	missense	probably benign	0.00
IGL02353:Got1	APN	19	43,512,882 (GRCm39)	missense	probably damaging	1.00
IGL02360:Got1	APN	19	43,512,882 (GRCm39)	missense	probably damaging	1.00
IGL02726:Got1	APN	19	43,488,851 (GRCm39)	splice site	probably null
F5770:Got1	UTSW	19	43,489,000 (GRCm39)	unclassified	probably benign
R0128:Got1	UTSW	19	43,512,816 (GRCm39)	missense	probably benign
R0245:Got1	UTSW	19	43,492,946 (GRCm39)	splice site	probably benign
R0578:Got1	UTSW	19	43,504,222 (GRCm39)	missense	probably benign	0.01
R1116:Got1	UTSW	19	43,491,413 (GRCm39)	nonsense	probably null
R1927:Got1	UTSW	19	43,504,119 (GRCm39)	critical splice donor site	probably null
R4516:Got1	UTSW	19	43,493,280 (GRCm39)	missense	probably damaging	1.00
R4774:Got1	UTSW	19	43,491,345 (GRCm39)	critical splice donor site	probably null
R4785:Got1	UTSW	19	43,491,376 (GRCm39)	missense	possibly damaging	0.80
R5463:Got1	UTSW	19	43,493,036 (GRCm39)	missense	probably benign	0.03
R6612:Got1	UTSW	19	43,493,242 (GRCm39)	missense	probably damaging	1.00
R7556:Got1	UTSW	19	43,491,469 (GRCm39)	missense	probably damaging	1.00
R7659:Got1	UTSW	19	43,493,078 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACCCGATTCTCCCTGATAGC -3'
(R):5'- CAGCATTCCAGTTCTGGAGCTC -3'

Sequencing Primer
(F):5'- CTGATAGCCAGGCTGTTGTCC -3'
(R):5'- CCAGTTCTGGAGCTCACATTAAAAG -3'

Posted On

2022-11-14